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Related Experiment Videos

Enzyme replacement therapy in Fabry disease.

R O Brady1, G J Murray, D F Moore

  • 1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA. bradyr@ninds.nih.gov

Journal of Inherited Metabolic Disease
|January 5, 2002
PubMed
Summary
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Enzyme replacement therapy with alpha-galactosidase A (alpha-Gal A) effectively treats Fabry disease. This therapy reduces storage products, alleviates pain, and improves organ function, offering a promising management strategy.

Area of Science:

  • Biochemistry
  • Genetics
  • Nephrology

Background:

  • Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide.
  • Enzyme replacement therapy (ERT) using alpha-galactosidase A (alpha-Gal A) has emerged as a significant treatment.
  • Previous studies indicated potential benefits of ERT in managing Fabry disease manifestations.

Purpose of the Study:

  • To evaluate the efficacy and safety of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease.
  • To assess the impact of ERT on clinical symptoms, biochemical markers, and organ function.
  • To determine the long-term benefits of agalsidase alfa treatment.

Main Methods:

  • A double-blind, placebo-controlled trial involving 26 hemizygous male patients with Fabry disease.

Related Experiment Videos

  • Patients received either agalsidase alfa or placebo for 6 months, followed by open-label agalsidase alfa for 12 months.
  • Evaluated outcomes included neuropathic pain, renal function (creatinine clearance, histology), electrocardiography (QRS interval), weight, cerebrovascular flow, sensory perception, sweating, and overall well-being.

    • Main Results:

    • Agalsidase alfa significantly reduced neuropathic pain (p = 0.02) and improved creatinine clearance (p = 0.02).
    • Improvements were observed in glomerular histology, QRS interval, weight gain, and cerebrovascular flow.
    • Long-term treatment led to sustained pain reduction, improved heat/cold sensation, stabilized renal function, normalized sweating, and enhanced energy levels and well-being.

    Conclusions:

    • Enzyme replacement therapy with agalsidase alfa is a well-tolerated and effective treatment for Fabry disease.
    • ERT successfully reduces globotriaosylceramide accumulation and ameliorates multiple debilitating symptoms.
    • ERT represents a promising therapeutic strategy for the long-term management of Fabry disease patients.